CPVT diagnosed according to criteria*:
- In the presence of a structurally normal heart, normal ECG, and unexplained exercise or catecholamine induced bidirectional VT or polymorphic ventricular premature beats (VPBs) or VT in an individual younger than 40 years. OR
- In the presence of a structurally normal heart and coronary arteries, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT or polymorphic VPBs or VT in an individual older than 40 years.
* Heart Rhythm Society/European Heart Rhythm Association
Individuals with severe or syndromic disease should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease. In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.
- Unclear diagnosis or history suggestive of a non-genetic cause
- Any CPVT mutation positive (if clearly pathogenic)
Prior genetic testing guidance
Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.
PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.
Prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List